Canonical Allele Identifier: CA358783702

Gene: AGA

Linked Data

• MyVariant Identifiers: chr4:g.178360793C>T (hg19) ; chr4:g.177439639C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177439639C>T , CM000666.2:g.177439639C>T	GRCh38
NC_000004.11:g.178360793C>T , CM000666.1:g.178360793C>T	GRCh37
NC_000004.10:g.178597787C>T	NCBI36
NG_011845.2:g.7865G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000264595.7:c.331G>A MANE Select	ENSP00000264595.2:p.Ala111Thr
ENST00000264595.6:c.331G>A	ENSP00000264595.2:p.Ala111Thr
ENST00000506853.5:n.365G>A
ENST00000510635.1:c.27G>A
ENST00000510955.5:n.315+634G>A
NM_000027.3:c.331G>A	NP_000018.2:p.Ala111Thr
NM_001171988.1:c.331G>A	NP_001165459.1:p.Ala111Thr
NR_033655.1:n.459G>A
XM_006714123.2:c.331G>A	XP_006714186.1:p.Ala111Thr
XR_001741155.2:n.425G>A
NM_000027.4:c.331G>A MANE Select	NP_000018.2:p.Ala111Thr
NM_001171988.2:c.331G>A	NP_001165459.1:p.Ala111Thr
NR_033655.2:n.393G>A